3k8o
From Proteopedia
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{{STRUCTURE_3k8o| PDB=3k8o | SCENE= }} | {{STRUCTURE_3k8o| PDB=3k8o | SCENE= }} | ||
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===Crystal structure of human purine nucleoside phosphorylase in complex with DATMe-ImmH=== | ===Crystal structure of human purine nucleoside phosphorylase in complex with DATMe-ImmH=== | ||
| + | {{ABSTRACT_PUBMED_020212140}} | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/PNPH_HUMAN PNPH_HUMAN]] Defects in PNP are the cause of purine nucleoside phosphorylase deficiency (PNPD) [MIM:[http://omim.org/entry/613179 613179]]. It leads to a severe T-cell immunodeficiency with neurologic disorder in children.<ref>PMID:3029074</ref><ref>PMID:1384322</ref><ref>PMID:8931706</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/PNPH_HUMAN PNPH_HUMAN]] The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.<ref>PMID:2104852</ref> | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[3k8o]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3K8O OCA]. | |
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Purine-nucleoside phosphorylase]] | [[Category: Purine-nucleoside phosphorylase]] | ||
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[[Category: Rinaldo-matthis, A.]] | [[Category: Rinaldo-matthis, A.]] | ||
[[Category: Schramm, V L.]] | [[Category: Schramm, V L.]] | ||
| - | [[Category: Acetylation]] | ||
| - | [[Category: Cytoplasm]] | ||
[[Category: Cytoskeleton]] | [[Category: Cytoskeleton]] | ||
[[Category: Datme-immh]] | [[Category: Datme-immh]] | ||
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[[Category: Hpnp]] | [[Category: Hpnp]] | ||
[[Category: Pnp]] | [[Category: Pnp]] | ||
| - | [[Category: Polymorphism]] | ||
[[Category: Purine nucleoside phosphorylase]] | [[Category: Purine nucleoside phosphorylase]] | ||
[[Category: Transferase]] | [[Category: Transferase]] | ||
[[Category: Transition state analog inhibitor]] | [[Category: Transition state analog inhibitor]] | ||
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| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Mar 3 17:12:51 2010'' | ||
Revision as of 22:17, 24 March 2013
Contents |
Crystal structure of human purine nucleoside phosphorylase in complex with DATMe-ImmH
Template:ABSTRACT PUBMED 020212140
Disease
[PNPH_HUMAN] Defects in PNP are the cause of purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]. It leads to a severe T-cell immunodeficiency with neurologic disorder in children.[1][2][3]
Function
[PNPH_HUMAN] The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.[4]
About this Structure
3k8o is a 6 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- ↑ Williams SR, Gekeler V, McIvor RS, Martin DW Jr. A human purine nucleoside phosphorylase deficiency caused by a single base change. J Biol Chem. 1987 Feb 15;262(5):2332-8. PMID:3029074
- ↑ Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ, Markert ML. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. Am J Hum Genet. 1992 Oct;51(4):763-72. PMID:1384322
- ↑ Pannicke U, Tuchschmid P, Friedrich W, Bartram CR, Schwarz K. Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. Hum Genet. 1996 Dec;98(6):706-9. PMID:8931706
- ↑ Ealick SE, Rule SA, Carter DC, Greenhough TJ, Babu YS, Cook WJ, Habash J, Helliwell JR, Stoeckler JD, Parks RE Jr, et al.. Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution. J Biol Chem. 1990 Jan 25;265(3):1812-20. PMID:2104852
